Title : Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).

Pub. Date : 1995 Oct 23

PMID : 8580427






2 Functional Relationships(s)
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1 This phenotype is clearly different from classical paramyotonia congenita Eulenburg, which has been shown to be a sodium channelopathy resulting from mutations in the gene for the alpha-subunit of the human skeletal muscle sodium channel gene (SCN4A). Sodium sodium voltage-gated channel alpha subunit 4 Homo sapiens
2 This phenotype is clearly different from classical paramyotonia congenita Eulenburg, which has been shown to be a sodium channelopathy resulting from mutations in the gene for the alpha-subunit of the human skeletal muscle sodium channel gene (SCN4A). Sodium sodium voltage-gated channel alpha subunit 4 Homo sapiens